RABGAP1L Chromosome 1

RAB GTPase activating protein 1 like
1 variant 1 Health Risk

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What This Gene Does
Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in several cellular components, including Golgi apparatus; cilium; and early endosome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Cholesteatoma
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1035337401 Health Risk Likely pathogenic Cholesteatoma, Cholesteatoma
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